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  1. Silver-Russell Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1324
    ... Clinodactyly Dental anomalies Global DD Microcephaly Synophrys NBN Nijmegen breakage syndrome AR Chromosome instability Microcephaly Sloping forehead PCNT Microcephalic ...
  2. Fanconi Anemia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1401
    ... cancers that occur at an early age NBN Nijmegen breakage syndrome AR May manifest ↑ chromosome breakage w/MMC Short ...
  3. Genetics of Hereditary Hematologic Malignancies (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK606139
    ... and nonmelanoma skin cancers Adolescents and young adults Nijmegen breakage syndrome NBS1 AR NHL, ALL Congenital malformations Presents more ...
  4. Microcephalic Osteodysplastic Primordial Dwarfism Type II - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK575926
    ... recognized retrospectively, assoc w/ syndromic diagnoses such as Nijmegen breakage syndrome , Bloom syndrome , & Seckel syndrome (see Note following table). ...
  5. Monosomy 7 Predisposition Syndromes Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK571103
    ... aplastic bone marrow failure; rarely, myeloid neoplasms NBN Nijmegen breakage syndrome AR Microcephaly, craniofacial features, growth deficiency, recurrent infections ...
  6. Dictionary of Cancer Terms - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65951
    ... therapy nicotine vaccine nicotinic acid night sweats NIH Nijmegen breakage syndrome Nilandron NILM nilotinib nilutamide nimodipine nimotuzumab nimustine Ninlaro ...
  7. X-Linked Hyper IgM Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1402
    ... Lymphopenia, ↑ α-fetoprotein, variable mitogen & antigen response NBN Nijmegen breakage syndrome AR Recurrent URTI/LRTI, malignancy, autoimmune conditions (primarily ...
  8. X-Linked Severe Combined Immunodeficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1410
    ... FOXI3 , FOXN1 , IKBKB , LCK , LIG4 , MTHFD1 , NBN (see Nijmegen Breakage Syndrome ), NHEJ1 , ORAI1 , PAX1 , SLC46A1 (see Hereditary Folate Malabsorption ), ...
  9. NLM Digital Collections - Drugs against cancer : stories of discovery and the quest for a cure 
    Publication: Bethesda, Maryland : National Cancer Institute, [2022]
    resource.nlm.nih.gov/9918505188606676
    ... The new syndrome came to be known as Nijmegen Breakage Syndrome (NBS) and the responsible gene Nbsl . In addition ... 27 A.12. The first described cases of Nijmegen breakage syndrome. The proband (defining case), born in 1969, had ...
  10. Nijmegen breakage syndrome 
    https://medlineplus.gov/.../condition/nijmegen-breakage-syndrome
    Nijmegen breakage syndrome is a condition characterized by short stature, an unusually small head size (microcephaly), distinctive facial features, recurrent respiratory ...
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